CHIC1_HUMAN
ID CHIC1_HUMAN Reviewed; 224 AA.
AC Q5VXU3; A0PJZ2; B0QZ87; B9EGS5; Q5CZ84;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-FEB-2005, sequence version 2.
DT 03-AUG-2022, entry version 128.
DE RecName: Full=Cysteine-rich hydrophobic domain-containing protein 1;
DE AltName: Full=Brain X-linked protein;
GN Name=CHIC1; Synonyms=BRX;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Amygdala;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=9321471; DOI=10.1007/s003359900561;
RA Simmler M.-C., Heard E., Rougeulle C., Cruaud C., Weissenbach J., Avner P.;
RT "Localization and expression analysis of a novel conserved brain expressed
RT transcript, Brx/BRX, lying within the Xic/XIC candidate region.";
RL Mamm. Genome 8:760-766(1997).
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cytoplasmic vesicle
CC {ECO:0000250}. Note=Also present at a Golgi-like vesicular compartment
CC and at scattered vesicles. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5VXU3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5VXU3-2; Sequence=VSP_034830;
CC -!- TISSUE SPECIFICITY: Equally expressed in various parts of the brain.
CC {ECO:0000269|PubMed:9321471}.
CC -!- PTM: Palmitoylated. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the CHIC family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-8 is the initiator.
CC {ECO:0000305}.
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DR EMBL; CR936642; CAI56782.1; -; mRNA.
DR EMBL; AL356513; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL358796; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC127727; AAI27728.1; -; mRNA.
DR EMBL; BC127728; AAI27729.1; -; mRNA.
DR EMBL; BC136691; AAI36692.1; -; mRNA.
DR EMBL; BC136692; AAI36693.1; -; mRNA.
DR CCDS; CCDS35335.2; -. [Q5VXU3-1]
DR CCDS; CCDS75993.1; -. [Q5VXU3-2]
DR RefSeq; NP_001034929.2; NM_001039840.2. [Q5VXU3-1]
DR RefSeq; NP_001287813.1; NM_001300884.1. [Q5VXU3-2]
DR AlphaFoldDB; Q5VXU3; -.
DR SMR; Q5VXU3; -.
DR BioGRID; 119745; 19.
DR STRING; 9606.ENSP00000362601; -.
DR iPTMnet; Q5VXU3; -.
DR PhosphoSitePlus; Q5VXU3; -.
DR BioMuta; CHIC1; -.
DR DMDM; 77454562; -.
DR MassIVE; Q5VXU3; -.
DR PaxDb; Q5VXU3; -.
DR PeptideAtlas; Q5VXU3; -.
DR PRIDE; Q5VXU3; -.
DR ProteomicsDB; 65613; -. [Q5VXU3-1]
DR ProteomicsDB; 65614; -. [Q5VXU3-2]
DR Antibodypedia; 27995; 21 antibodies from 10 providers.
DR DNASU; 53344; -.
DR Ensembl; ENST00000373502.10; ENSP00000362601.5; ENSG00000204116.12. [Q5VXU3-1]
DR Ensembl; ENST00000373504.10; ENSP00000362603.5; ENSG00000204116.12. [Q5VXU3-2]
DR GeneID; 53344; -.
DR KEGG; hsa:53344; -.
DR MANE-Select; ENST00000373502.10; ENSP00000362601.5; NM_001039840.4; NP_001034929.2.
DR UCSC; uc004ebk.5; human. [Q5VXU3-1]
DR CTD; 53344; -.
DR DisGeNET; 53344; -.
DR GeneCards; CHIC1; -.
DR HGNC; HGNC:1934; CHIC1.
DR HPA; ENSG00000204116; Low tissue specificity.
DR MIM; 300922; gene.
DR neXtProt; NX_Q5VXU3; -.
DR OpenTargets; ENSG00000204116; -.
DR PharmGKB; PA26465; -.
DR VEuPathDB; HostDB:ENSG00000204116; -.
DR eggNOG; KOG4101; Eukaryota.
DR GeneTree; ENSGT00390000003601; -.
DR HOGENOM; CLU_100628_0_0_1; -.
DR InParanoid; Q5VXU3; -.
DR OMA; NKLGLHW; -.
DR OrthoDB; 1449345at2759; -.
DR PhylomeDB; Q5VXU3; -.
DR TreeFam; TF314908; -.
DR PathwayCommons; Q5VXU3; -.
DR BioGRID-ORCS; 53344; 11 hits in 699 CRISPR screens.
DR ChiTaRS; CHIC1; human.
DR GenomeRNAi; 53344; -.
DR Pharos; Q5VXU3; Tdark.
DR PRO; PR:Q5VXU3; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5VXU3; protein.
DR Bgee; ENSG00000204116; Expressed in endothelial cell and 184 other tissues.
DR ExpressionAtlas; Q5VXU3; baseline and differential.
DR Genevisible; Q5VXU3; HS.
DR GO; GO:0031410; C:cytoplasmic vesicle; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR InterPro; IPR039735; CHIC1/2.
DR InterPro; IPR019383; Golgin_A_7/ERF4.
DR PANTHER; PTHR13005; PTHR13005; 1.
DR Pfam; PF10256; Erf4; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Coiled coil; Cytoplasmic vesicle;
KW Lipoprotein; Membrane; Palmitate; Reference proteome.
FT CHAIN 1..224
FT /note="Cysteine-rich hydrophobic domain-containing protein
FT 1"
FT /id="PRO_0000189554"
FT REGION 1..80
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 42..70
FT /evidence="ECO:0000255"
FT COMPBIAS 40..69
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 189..208
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_034830"
SQ SEQUENCE 224 AA; 25616 MW; ED6438E3B379F7E6 CRC64;
MSILLPNMAE FDTISELEEE EEEEAATSSS SPSSSSSVSG PDDDEEDEEE EEEEEEEEEE
EEEEEEEEAP PPPRVVSEEH LRRYAPDPVL VRGAGHITVF GLSNKFDTEF PSVLTGKVAP
EEFKTSIGRV NACLKKALPV NVKWLLCGCL CCCCTLGCSL WPVICLNKRT RRSIQKLIEW
ENNRLYHKLA LHWKLTKRKC ETSNMMEYVI LIEFLPKYPI FRPD
